A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640750



Internal ID7027524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50318915..50323762hg38UCSC Ensembl
Innerchr17:50318948..50323730hg38UCSC Ensembl
Outerchr17:50318883..50323795hg38UCSC Ensembl
chr17:48396276..48401123hg19UCSC Ensembl
Innerchr17:48396309..48401091hg19UCSC Ensembl
Outerchr17:48396244..48401156hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg384848
hg194848
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15695055, essv15695054, essv15695057, essv15695056
SamplesHG03784, HG03785, HG03934, HG03989
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640750
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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